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Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Publication ,  Journal Article
Allingham, RR; Wiggs, JL; Hauser, ER; Larocque-Abramson, KR; Santiago-Turla, C; Broomer, B; Del Bono, EA; Graham, FL; Haines, JL; Hauser, MA ...
Published in: Invest Ophthalmol Vis Sci
June 2005

PURPOSE: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increase the power of detection. Ordered subset analysis (OSA) is a recently described method that utilizes the variability of phenotypic traits to determine underlying genetic heterogeneity. METHODS: Eighty-six multiplex families with POAG were clinically ascertained for genetic analysis. Age at diagnosis (AAD) was used as a surrogate for age of onset in affected family members. Nine genetic markers within the 15q11-13 interval on chromosome 15 were used for OSA analysis. RESULTS: An 11-cM linkage interval with a peak LOD score of 3.24 centered at the GABRB3 locus (P = 0.013 by permutation test) was identified in a subset of 15 families, which represents 17% of the total dataset (15/86 families). The mean AAD for the affected OSA families was 44.1 +/- 9.1 years (SD). The mean AAD for the complementary group was 61.3 +/- 10.4 years. African-American and white families were well represented in the OSA subset. CONCLUSIONS: Linkage was identified for POAG to an 11-cM region on chromosome 15, designated GLC1I. This result provides further evidence that AAD and other phenotypic traits can be used as stratification variables to identify genes in complex disorders such as POAG and suggests that the 15q11-13 locus is one of the largest genetic contributors to POAG identified to date.

Duke Scholars

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

June 2005

Volume

46

Issue

6

Start / End Page

2002 / 2005

Location

United States

Related Subject Headings

  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Lod Score
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genetic Markers
  • Genetic Linkage
 

Citation

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Allingham, R. R., Wiggs, J. L., Hauser, E. R., Larocque-Abramson, K. R., Santiago-Turla, C., Broomer, B., … Hauser, M. A. (2005). Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci, 46(6), 2002–2005. https://doi.org/10.1167/iovs.04-1477
Allingham, R Rand, Janey L. Wiggs, Elizabeth R. Hauser, Karen R. Larocque-Abramson, Cecilia Santiago-Turla, Bob Broomer, Elizabeth A. Del Bono, et al. “Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.Invest Ophthalmol Vis Sci 46, no. 6 (June 2005): 2002–5. https://doi.org/10.1167/iovs.04-1477.
Allingham RR, Wiggs JL, Hauser ER, Larocque-Abramson KR, Santiago-Turla C, Broomer B, et al. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2002–5.
Allingham, R. Rand, et al. “Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.Invest Ophthalmol Vis Sci, vol. 46, no. 6, June 2005, pp. 2002–05. Pubmed, doi:10.1167/iovs.04-1477.
Allingham RR, Wiggs JL, Hauser ER, Larocque-Abramson KR, Santiago-Turla C, Broomer B, Del Bono EA, Graham FL, Haines JL, Pericak-Vance MA, Hauser MA. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2002–2005.

Published In

Invest Ophthalmol Vis Sci

DOI

ISSN

0146-0404

Publication Date

June 2005

Volume

46

Issue

6

Start / End Page

2002 / 2005

Location

United States

Related Subject Headings

  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Lod Score
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genetic Markers
  • Genetic Linkage